Phenotypes associated with this allele

• Allele Symbol: Kmt2a^tm1Sjk
• Allele Name: targeted mutation 1, Stanley J Korsmeyer
• Allele ID: MGI:1932081
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kmt2a^tm1Sjk/Kmt2a^tm1Sjk	involves: 129S2/SvPas * C3H * C57BL/6	MGI:2177859
hm2	Kmt2a^tm1Sjk/Kmt2a^tm1Sjk	involves: 129S2/SvPas * CD-1	MGI:5548113
ht3	Kmt2a^tm1Sjk/Kmt2a^+	involves: 129S2/SvPas * C3H * C57BL/6	MGI:2177861
ht4	Kmt2a^tm1Sjk/Kmt2a^tm1.2Erns	involves: 129S2/SvPas * C57BL/6 * FVB/N	MGI:3839888

Genotype
MGI:2177859

hm1

• Allelic Composition: Kmt2a^tm1Sjk/Kmt2a^tm1Sjk
• Genetic Background: involves: 129S2/SvPas * C3H * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality, complete penetrance ( J:29958 , J:147265 )

• mice die by E10.5 (J:29958)

Genotype
MGI:5548113

hm2

• Allelic Composition: Kmt2a^tm1Sjk/Kmt2a^tm1Sjk
• Genetic Background: involves: 129S2/SvPas * CD-1

nervous system

glossopharyngeal nerve hypoplasia ( J:201612 )

muscle

abnormal myoblast differentiation ( J:201612 )

• fewer migratory myoblasts that are less organized than in wild-type mice

cellular

abnormal myoblast differentiation ( J:201612 )

• fewer migratory myoblasts that are less organized than in wild-type mice

Genotype
MGI:2177861

ht3

• Allelic Composition: Kmt2a^tm1Sjk/Kmt2a⁺
• Genetic Background: involves: 129S2/SvPas * C3H * C57BL/6

reproductive system

reduced female fertility ( J:29958 )

♀

skeleton

abnormal sternum morphology ( J:29958 )

• 20 of 22 mice exhibit manubriosternebral abnormalities

• 17 of 22 mice exhibit xiphosternebral malformations

decreased rib number ( J:29958 )

• mice exhibit a complete loss or partial rib lose at T13

vertebral transformation ( J:29958 )

• mice exhibit C7/T13/L5 or C7/T12/L6 instead of C7/T13/L6 as in wild-type mice

thoracic vertebral transformation ( J:29958 )

• 18 of 22 mice exhibit T3 to T2 transformations

• 16 of 22 mice exhibit T2 to T1 transformations

• 8 of 22 mice exhibit T13 to L1 transformations

cervical vertebral transformation ( J:29958 )

• 14 of 22 mice exhibit C2 malformations compared to 4 of 29 mice

• 17 of 22 mice exhibit C7 to C6 transformations

lumbar vertebral transformation ( J:29958 )

• 19 of 22 mice exhibit L6 to S1 transformations

hematopoietic system

anemia ( J:29958 )

decreased erythrocyte cell number ( J:29958 )

decreased hemoglobin content ( J:29958 )

thrombocytopenia ( J:29958 )

decreased B cell number ( J:29958 )

growth/size/body

decreased birth body size ( J:29958 )

• mice are small at birth

postnatal growth retardation ( J:29958 )

immune system

decreased B cell number ( J:29958 )

Genotype
MGI:3839888

ht4

• Allelic Composition: Kmt2a^tm1Sjk/Kmt2a^tm1.2Erns
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * FVB/N

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:147265 )

• mice die by E11.5